세린 /트레오닌-단백질인산화효소 Nek8 은 유사분열 A 관련 키나아제 8에서 전혀 알려져 있지 않으며, NEK8 [5] [6] 효소 이다.
기능. Nek8은 Aspergillus nidulans 세린/트레오닌 특이 단백질 키나제 패밀리의 구성원이다. 암호화된 단백질은 G2 에서 M [5] 단계 로 세포 주기 진행에 역할 을 할 수 있다.
임상적 의의 NEK8 유전자의 돌연변이는 네프로노피스 와 [7] [8]
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000160602 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000017405 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: NIMA (never in mitosis gene a)- related kinase 8" .^ Otto EA, Trapp ML, Schultheiss UT, Helou J, Quarmby LM, Hildebrandt F (March 2008). "NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis" . J. Am. Soc. Nephrol . 19 (3): 587–92. doi :10.1681/ASN.2007040490 . PMC 2391043 PMID 18199800 . ^ Lancaster MA, Gleeson JG (June 2009). "The primary cilium as a cellular signaling center: lessons from disease" . Curr. Opin. Genet. Dev . 19 (3): 220–9. doi :10.1016/j.gde.2009.04.008 . PMC 2953615 PMID 19477114 . ^ Zalli, D.; Bayliss, R.; Fry, A. M. (21 November 2011). "The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis" . Human Molecular Genetics . 21 (5): 1155–1171. doi :10.1093/hmg/ddr544 . PMC 3277313 PMID 22106379 . 추가 정보 Bowers AJ, Boylan JF (2004). "Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors". Gene . 328 : 135–42. doi :10.1016/j.gene.2003.12.002 . PMID 15019993 . Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells". Science . 307 (5715): 1621–5. Bibcode :2005Sci...307.1621B . doi :10.1126/science.1105776 . PMID 15761153 . S2CID 39457788 . Valkova N, Yunis R, Mak SK, et al. (2005). "Nek8 mutation causes overexpression of galectin-1, sorcin, and vimentin and accumulation of the major urinary protein in renal cysts of jck mice" . Mol. Cell. Proteomics . 4 (7): 1009–18. doi :10.1074/mcp.M500091-MCP200 PMID 15872312 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Holland PM, Milne A, Garka K, et al. (2002). "Purification, cloning, and characterization of Nek8, a novel NIMA-related kinase, and its candidate substrate Bicd2" . J. Biol. Chem . 277 (18): 16229–40. doi :10.1074/jbc.M108662200 PMID 11864968 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Simms RJ, Eley L, Sayer JA (2009). "Nephronophthisis" . Eur. J. Hum. Genet . 17 (4): 406–16. doi :10.1038/ejhg.2008.238 . PMC 2986221 PMID 19066617 . Wu C, Ma MH, Brown KR, et al. (2007). "Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening". Proteomics . 7 (11): 1775–85. doi :10.1002/pmic.200601006 . PMID 17474147 . S2CID 22474278 .
